CDCBM4
MCID: CRT071
MIFTS: 22

Cortical Dysplasia, Complex, with Other Brain Malformations 4 (CDCBM4)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cortical Dysplasia, Complex, with Other Brain Malformations 4

MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 4:

Name: Cortical Dysplasia, Complex, with Other Brain Malformations 4 58 76 30 6 74
Cdcbm4 58 12 76
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 4 41
Complex Cortical Dysplasia with Other Brain Malformations 4 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
mutations occur de novo
three unrelated patients have been reported (last curated september 2013)


HPO:

33
cortical dysplasia, complex, with other brain malformations 4:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cortical Dysplasia, Complex, with Other Brain Malformations 4

UniProtKB/Swiss-Prot : 76 Cortical dysplasia, complex, with other brain malformations 4: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients.

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 4, is also known as cdcbm4, and has symptoms including seizures An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 4 is TUBG1 (Tubulin Gamma 1). Affiliated tissues include brain and cortex, and related phenotypes are cataract and microcephaly

Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the TUBG1 gene on chromosome 17q21.

Description from OMIM: 615412

Related Diseases for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Symptoms & Phenotypes for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 4:

33 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 cataract 33 occasional (7.5%) HP:0000518
2 microcephaly 33 occasional (7.5%) HP:0000252
3 spastic tetraplegia 33 occasional (7.5%) HP:0002510
4 seizures 33 HP:0001250
5 global developmental delay 33 HP:0001263
6 pachygyria 33 HP:0001302
7 cortical dysplasia 33 HP:0002539
8 agyria 33 HP:0031882
9 gray matter heterotopia 33 HP:0002282

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
delayed psychomotor development
subcortical band heterotopia
spastic tetraplegia (in some patients)
malformations of cortical development
more
Head And Neck Head:
microcephaly (in some patients)

Head And Neck Eyes:
cataract (in some patients)

Clinical features from OMIM:

615412

UMLS symptoms related to Cortical Dysplasia, Complex, with Other Brain Malformations 4:


seizures

GenomeRNAi Phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 4 according to GeneCards Suite gene sharing:

27 (showing 2, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 RETREG3 TUBG1
2 Decreased shRNA abundance GR00251-A-2 9.23 RETREG3 TUBG1

Drugs & Therapeutics for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Search Clinical Trials , NIH Clinical Center for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Genetic Tests for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Genetic tests related to Cortical Dysplasia, Complex, with Other Brain Malformations 4:

# Genetic test Affiliating Genes
1 Cortical Dysplasia, Complex, with Other Brain Malformations 4 30 TUBG1

Anatomical Context for Cortical Dysplasia, Complex, with Other Brain Malformations 4

MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 4:

42
Brain, Cortex

Publications for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Articles related to Cortical Dysplasia, Complex, with Other Brain Malformations 4:

(showing 1, show less)
# Title Authors Year
1
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. ( 23603762 )
2013

Variations for Cortical Dysplasia, Complex, with Other Brain Malformations 4

UniProtKB/Swiss-Prot genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 4:

76 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 TUBG1 p.Tyr92Cys VAR_070577 rs398123046
2 TUBG1 p.Thr331Pro VAR_070578 rs398123047
3 TUBG1 p.Leu387Pro VAR_070579 rs398123045

ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 4:

6 (showing 6, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBG1 NM_001070.4(TUBG1): c.1160T> C (p.Leu387Pro) single nucleotide variant Pathogenic rs398123045 GRCh37 Chromosome 17, 40766863: 40766863
2 TUBG1 NM_001070.4(TUBG1): c.1160T> C (p.Leu387Pro) single nucleotide variant Pathogenic rs398123045 GRCh38 Chromosome 17, 42614845: 42614845
3 TUBG1 NM_001070.4(TUBG1): c.275A> G (p.Tyr92Cys) single nucleotide variant Pathogenic rs398123046 GRCh37 Chromosome 17, 40762553: 40762553
4 TUBG1 NM_001070.4(TUBG1): c.275A> G (p.Tyr92Cys) single nucleotide variant Pathogenic rs398123046 GRCh38 Chromosome 17, 42610535: 42610535
5 TUBG1 NM_001070.4(TUBG1): c.991A> C (p.Thr331Pro) single nucleotide variant Pathogenic rs398123047 GRCh37 Chromosome 17, 40766425: 40766425
6 TUBG1 NM_001070.4(TUBG1): c.991A> C (p.Thr331Pro) single nucleotide variant Pathogenic rs398123047 GRCh38 Chromosome 17, 42614407: 42614407

Expression for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Search GEO for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 4.

Pathways for Cortical Dysplasia, Complex, with Other Brain Malformations 4

GO Terms for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Sources for Cortical Dysplasia, Complex, with Other Brain Malformations 4

3 CDC
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10 dbSNP
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17 EFO
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20 FMA
29 GO
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56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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